Canonical Allele Identifier: CA413918362

Gene: BTK

Linked Data

• ClinVar Variation Id: 852828
• ClinVar RCV Id: RCV001057527
• dbSNP Id: rs1926352588
• MyVariant Identifiers: chrX:g.100608189C>G (hg19) ; chrX:g.101353201C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353201C>G , CM000685.2:g.101353201C>G	GRCh38
NC_000023.10:g.100608189C>G , CM000685.1:g.100608189C>G	GRCh37
NC_000023.9:g.100494845C>G	NCBI36
NG_009616.1:g.38024G>C , LRG_128:g.38024G>C
NG_011734.1:g.769G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3418G>C
ENST00000488970.2:n.4057G>C
ENST00000695614.1:c.1901G>C	ENSP00000512053.1:p.Trp634Ser
ENST00000695615.1:c.1901G>C	ENSP00000512054.1:p.Trp634Ser
ENST00000695616.1:c.*1746G>C	ENSP00000512055.1:n.*1746G>C
ENST00000695617.1:c.1898G>C	ENSP00000512056.1:p.Trp633Ser
ENST00000695618.1:c.*1650G>C	ENSP00000512058.1:n.*1650G>C
ENST00000695619.1:c.*1611G>C	ENSP00000512059.1:n.*1611G>C
ENST00000695620.1:c.*1827G>C	ENSP00000512060.1:n.*1827G>C
ENST00000695621.1:c.*326G>C	ENSP00000512061.1:n.*326G>C
ENST00000695622.1:c.1838G>C	ENSP00000512062.1:p.Trp613Ser
ENST00000695623.1:c.1895G>C	ENSP00000512063.1:p.Trp632Ser
ENST00000695624.1:n.1206G>C
ENST00000695625.1:c.1875+26G>C	ENSP00000512064.1:n.1875+26G>C
ENST00000695626.1:c.656G>C	ENSP00000512065.1:n.656G>C
ENST00000695627.1:c.849G>C	ENSP00000512066.1:n.849G>C
ENST00000695628.1:c.460G>C	ENSP00000512067.1:n.460G>C
ENST00000695629.1:c.341G>C	ENSP00000512068.1:p.Trp114Ser
ENST00000695630.1:c.628G>C
ENST00000695631.1:c.162G>C
ENST00000703407.1:c.1373G>C	ENSP00000512057.1:p.Trp458Ser
ENST00000308731.8:c.1901G>C MANE Select	ENSP00000308176.8:p.Trp634Ser
ENST00000308731.7:c.1901G>C	ENSP00000308176.7:p.Trp634Ser
ENST00000372880.5:c.1373G>C	ENSP00000361971.1:p.Trp458Ser
ENST00000470069.1:n.266G>C
ENST00000618050.4:c.1900G>C	ENSP00000479125.1:n.1900G>C
ENST00000621635.4:c.2003G>C	ENSP00000483570.1:p.Trp668Ser
NM_000061.2:c.1901G>C , LRG_128t1:c.1901G>C	NP_000052.1:p.Trp634Ser
NM_001287344.1:c.2003G>C	NP_001274273.1:p.Trp668Ser
NM_001287345.1:c.1373G>C	NP_001274274.1:p.Trp458Ser
NM_000061.3:c.1901G>C MANE Select	NP_000052.1:p.Trp634Ser
NM_001287344.2:c.2003G>C	NP_001274273.1:p.Trp668Ser
NM_001287345.2:c.1373G>C	NP_001274274.1:p.Trp458Ser